Dysarthria, and Facial asymmetry

Diseases related with Dysarthria and Facial asymmetry

In the following list you will find some of the most common rare diseases related to Dysarthria and Facial asymmetry that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Other less relevant matches:

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Top 5 symptoms//phenotypes associated to Dysarthria and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormal cerebellum morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Facial asymmetry. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypertelorism Ptosis Nystagmus Abnormality of movement Gait disturbance Cognitive impairment Muscular hypotonia Peripheral axonal neuropathy Pain Intention tremor Peripheral neuropathy Neurological speech impairment Unsteady gait Tremor Delayed speech and language development Limb ataxia Gait ataxia Kyphoscoliosis Depressivity Progressive cerebellar ataxia Generalized hypotonia Cerebellar atrophy Apraxia Microcephaly High palate Babinski sign Intellectual disability, mild Visual impairment Dysdiadochokinesis Short stature Epileptic spasms Hyperactivity Difficulty walking

Rare Symptoms - Less than 30% cases

Low-set ears Polydactyly Cleft palate Overweight Abnormal heart morphology Reduced visual acuity Molar tooth sign on MRI Anteverted nares Talipes equinovarus Postaxial polydactyly Hypertension Absent speech Speech apraxia Autism Autistic behavior Downslanted palpebral fissures Optic atrophy Attention deficit hyperactivity disorder Pulmonic stenosis Behavioral abnormality Involuntary movements Slurred speech Macrocephaly Tall stature Bifid uvula Dilatation Generalized myoclonic seizures Recurrent fractures High, narrow palate Hearing impairment Synophrys Increased reactive oxygen species production Frontal bossing Hydrocephalus Intellectual disability, moderate Mandibular prognathia Osteoporosis Myocardial fibrosis Cerebral cortical atrophy Scoliosis Limb muscle weakness Fasciculations Abnormal pyramidal sign Visual loss Polymicrogyria Hyporeflexia Incoordination Muscle weakness Dysphagia Areflexia Sensory axonal neuropathy Spasticity Strabismus Hypertrophic cardiomyopathy Cardiomyopathy Nasal speech Sensory neuropathy Brachydactyly Paraparesis Spastic paraparesis Hypsarrhythmia Neurodegeneration Sensory impairment Chest pain Glaucoma Decreased pyruvate carboxylase activity Palpitations Atrial fibrillation Mitochondrial malic enzyme reduced Inability to walk Cervical spinal cord atrophy Weight loss Clumsiness Muscular subvalvular aortic stenosis Left ventricular hypertrophy Abnormality of the dentate nucleus Palmar hyperhidrosis Temporal optic disc pallor Anemia Headache Blindness Respiratory insufficiency Optic disc pallor Abnormality of the skeletal system Abnormality of cardiovascular system morphology Neoplasm Peripheral demyelination Atrophic superior cerebellar peduncle Lower limb spasticity Structural foot deformity Abolished vibration sense Ventricular hypertrophy Spinal cord posterior columns myelin loss Chorea Impaired visually enhanced vestibulo-ocular reflex Heart block Decreased amplitude of sensory action potentials Optic neuropathy Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Hand muscle atrophy Impaired proprioception Spinocerebellar tract degeneration Thoracic scoliosis Hyposmia Areflexia of lower limbs Abnormal EKG Abnormality of visual evoked potentials Ketoacidosis Urinary bladder sphincter dysfunction Sinus tachycardia Reduced systolic function Hemifacial hypertrophy Ventricular arrhythmia Spastic gait Insulin resistance Ketosis Abnormality of the autonomic nervous system Incomprehensible speech Truncal ataxia Upper limb amyotrophy Muscle stiffness Reduced tendon reflexes Cachexia Decreased sensory nerve conduction velocity Impaired vibratory sensation Cerebellar cortical atrophy Hammertoe Decreased motor nerve conduction velocity Glucose intolerance Visual field defect Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Hyperactive deep tendon reflexes Gait imbalance Sarcoma Osteopenia Renovascular hypertension Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renal artery stenosis Arterial fibromuscular dysplasia Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Spinal neurofibromas Cerebral artery stenosis Schwannoma Febrile seizures EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Aphasia Dysphasia Language impairment Hemiparesis Status epilepticus Generalized-onset seizure Epileptic encephalopathy Focal-onset seizure Tibial pseudoarthrosis Urinary incontinence Developmental regression EEG abnormality Encephalopathy Intellectual disability, severe Elongated superior cerebellar peduncle Large for gestational age Oculomotor apraxia Cerebellar vermis hypoplasia Depressed nasal bridge Brow ptosis Renal phosphate wasting Glioma Hypoglycemia Abnormality of the cardiovascular system Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Bone pain Cafe-au-lait spot Aganglionic megacolon Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Tachycardia Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Abnormality of skin pigmentation Paresthesia Genu valgum Malabsorption Pruritus Leukemia Paralysis Breast carcinoma Back pain Nasolacrimal duct obstruction Neoplasm of the endocrine system Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Meningioma Precocious puberty Gangrene Severe vision loss Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Clitoral hypertrophy Falls Milia Vertigo Limb tremor Myoclonus Pectus excavatum Myopia Cryptorchidism Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Tongue atrophy Narrow mouth Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Distal lower limb amyotrophy Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Brachycephaly Camptodactyly Axonal loss Thick lower lip vermilion Long fingers Disproportionate tall stature Decreased muscle mass Sparse eyebrow Spontaneous abortion Narrow face Hyperpigmentation of the skin Dental crowding Broad-based gait Intellectual disability, profound Abnormality of the pinna High myopia Wide intermamillary distance Webbed neck Postural instability Bulbous nose Arachnodactyly Smooth philtrum Prominent nasal bridge Short philtrum Pectus carinatum Abnormality of lipid metabolism Muscle fibrillation Slender build Erythema Macule Urticaria Macular degeneration Hypohidrosis Hypotension Abnormality of the skin Dry skin Ophthalmoplegia Papule Hyperkeratosis Abnormality of the musculature Constipation Hyperreflexia Enuresis nocturna Oval face Enuresis Infantile spasms Cone-shaped epiphysis Short chin Short metacarpal Small hand Orthostatic hypotension Impaired smooth pursuit Bulbar palsy Progressive muscle weakness Decreased fertility Impotence Amyotrophic lateral sclerosis Calf muscle hypertrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Dysphonia Hyperlipidemia Aspiration Gynecomastia Type II diabetes mellitus Supranuclear gaze palsy Muscle cramps Infertility Muscular dystrophy Myalgia Proximal muscle weakness Pneumonia Elevated serum creatine phosphokinase Myopathy Skeletal muscle atrophy Supranuclear ophthalmoplegia Slender finger Hyperextensibility of the finger joints Dysmetria Median cleft lip Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Increased number of teeth Deviation of finger Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Radial deviation of finger Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hepatic fibrosis Hypoplasia of dental enamel Underdeveloped nasal alae Pancreatic cysts Narrow naris Oral cleft Kyphosis Lower limb muscle weakness Abnormality of eye movement Abnormality of the foot Dilated cardiomyopathy Pallor Pes planus Diabetes mellitus Pes cavus Arrhythmia Dystonia Lobulated tongue Congestive heart failure Respiratory distress Fatigue Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Stage 5 chronic kidney disease Carious teeth Small earlobe Muscular hypotonia of the trunk Mask-like facies Postural tremor Bilateral ptosis Poor head control Low anterior hairline Hypopigmentation of the skin Congenital cataract Corneal opacity Coloboma Neonatal hypotonia Aniridia Cerebellar hypoplasia Cerebral atrophy Hypoplasia of the corpus callosum Motor delay Cataract Asymmetry of the ears Long palm Focal motor seizures Narrow palm Long hallux Brisk reflexes Hypoplasia of the iris Abnormality of the cerebral white matter Abnormality of the dentition Sparse hair Abnormality of the kidney Cleft lip Telecanthus Proteinuria Agenesis of corpus callosum Alopecia Clinodactyly Syndactyly Renal insufficiency Wide nasal bridge Hearing abnormality Epicanthus Micrognathia Frontal cortical atrophy Truncal titubation Craniofacial asymmetry Scanning speech Broad distal phalanx of finger Abnormality of the pulmonary artery Titubation Hypoplasia of the fovea Continuous spike and waves during slow sleep


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